Mutagenetix > Incidental Mutation

Incidental Mutation 'R2125:Ndufaf3'

229774

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf3

Ensembl Gene

ENSMUSG00000070283

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 3

Synonyms

4733401H18Rik

MMRRC Submission

040128-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R2125 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108442786-108444635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108443936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 31 (R31Q)

Ref Sequence

ENSEMBL: ENSMUSP00000073832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000194381] [ENSMUST00000194904] [ENSMUST00000193421] [ENSMUST00000195249] [ENSMUST00000193427]

AlphaFold

Q9JKL4

Predicted Effect

probably benign
Transcript: ENSMUST00000019183

SMART Domains

Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039

Domain	Start	End	E-Value	Type
low complexity region	288	301	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
DALR_1	399	538	2.09e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074208
AA Change: R31Q

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283
AA Change: R31Q

Domain	Start	End	E-Value	Type
Pfam:DUF498	61	169	9.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081111

SMART Domains

Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	28	504	7.39e-260	SMART
CBS	117	168	9.4e-7	SMART
CBS	184	232	1.57e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193846

Predicted Effect

probably benign
Transcript: ENSMUST00000194381

Predicted Effect

probably benign
Transcript: ENSMUST00000194904

SMART Domains

Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	1	319	5e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193421

SMART Domains

Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	28	248	1.3e-18	SMART
CBS	92	143	4.5e-9	SMART
CBS	159	207	7.6e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195249

Predicted Effect

probably benign
Transcript: ENSMUST00000193427

SMART Domains

Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039

Domain	Start	End	E-Value	Type
low complexity region	55	66	N/A	INTRINSIC
DALR_1	68	171	1.3e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196210

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Abcb10	A	C	8: 124,691,831 (GRCm39)	V378G	probably benign	Het
Ackr2	C	T	9: 121,737,852 (GRCm39)	R76*	probably null	Het
Acly	T	C	11: 100,414,322 (GRCm39)	T35A	probably benign	Het
Acp7	A	C	7: 28,328,974 (GRCm39)	F69V	probably damaging	Het
Acsl3	T	A	1: 78,659,678 (GRCm39)	I110N	probably damaging	Het
Adam5	C	T	8: 25,305,134 (GRCm39)	V107M	probably damaging	Het
Adck2	T	C	6: 39,552,076 (GRCm39)	V281A	probably benign	Het
Adgrv1	A	G	13: 81,567,654 (GRCm39)	V5173A	probably benign	Het
Adgrv1	A	T	13: 81,568,069 (GRCm39)	S5035T	probably benign	Het
Arl10	T	A	13: 54,726,937 (GRCm39)		probably null	Het
B3gnt3	A	G	8: 72,146,002 (GRCm39)	W176R	probably damaging	Het
B4galt4	T	C	16: 38,586,300 (GRCm39)	I3T	probably damaging	Het
Casr	T	C	16: 36,315,614 (GRCm39)	I819V	possibly damaging	Het
Cdh1	T	C	8: 107,383,472 (GRCm39)	V237A	probably damaging	Het
Col22a1	G	A	15: 71,720,426 (GRCm39)	R605C	unknown	Het
Crlf3	A	G	11: 79,950,081 (GRCm39)	V183A	probably benign	Het
Crtac1	C	A	19: 42,312,171 (GRCm39)	V181L	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnhd1	A	T	7: 105,327,178 (GRCm39)	H709L	probably benign	Het
Dop1a	A	G	9: 86,403,099 (GRCm39)	Y1431C	probably damaging	Het
Ecpas	T	C	4: 58,833,978 (GRCm39)	H834R	probably benign	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Entpd3	T	C	9: 120,384,720 (GRCm39)	I99T	probably damaging	Het
Epha6	T	C	16: 59,503,051 (GRCm39)	D952G	probably damaging	Het
Exoc6	T	C	19: 37,579,389 (GRCm39)	L429P	probably damaging	Het
F13a1	A	G	13: 37,076,815 (GRCm39)	S625P	probably benign	Het
Fcgbpl1	A	T	7: 27,857,447 (GRCm39)	Y2265F	probably benign	Het
Fcho2	T	C	13: 98,912,406 (GRCm39)	N240S	possibly damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Fmo6	A	T	1: 162,757,527 (GRCm39)	M82K	possibly damaging	Het
Gabrr2	T	G	4: 33,095,548 (GRCm39)	I479R	probably damaging	Het
Gnl2	T	A	4: 124,947,278 (GRCm39)	F633L	probably benign	Het
Greb1l	C	T	18: 10,511,422 (GRCm39)	S648F	probably damaging	Het
Gsap	T	A	5: 21,447,811 (GRCm39)	C290S	probably damaging	Het
Gusb	A	G	5: 130,028,288 (GRCm39)	V268A	probably benign	Het
H2-D1	G	A	17: 35,483,091 (GRCm39)		probably null	Het
Hebp2	T	A	10: 18,417,008 (GRCm39)	E164D	probably benign	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hoxc13	G	T	15: 102,835,658 (GRCm39)	R262L	probably damaging	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Impg2	T	A	16: 56,085,427 (GRCm39)	Y1045N	probably damaging	Het
Kcnk1	A	G	8: 126,722,395 (GRCm39)	E66G	probably damaging	Het
Klkb1	A	G	8: 45,728,541 (GRCm39)	V406A	possibly damaging	Het
Klra10	G	A	6: 130,256,241 (GRCm39)	R138W	probably damaging	Het
Lama2	A	C	10: 26,920,449 (GRCm39)	Y193*	probably null	Het
Larp7	T	C	3: 127,336,779 (GRCm39)	T428A	probably benign	Het
Lipg	T	C	18: 75,078,956 (GRCm39)	N432S	probably benign	Het
Loxl1	T	C	9: 58,200,995 (GRCm39)	D489G	probably damaging	Het
Lrguk	A	G	6: 34,069,837 (GRCm39)	K571E	probably benign	Het
Map3k13	C	T	16: 21,710,894 (GRCm39)	T59I	probably benign	Het
Mertk	T	A	2: 128,604,058 (GRCm39)	D397E	probably benign	Het
Mgat3	G	A	15: 80,096,087 (GRCm39)	V305I	probably benign	Het
Mrtfb	T	C	16: 13,218,668 (GRCm39)	V449A	possibly damaging	Het
Mybpc1	G	A	10: 88,409,299 (GRCm39)	Q66*	probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Nrxn3	A	G	12: 89,227,290 (GRCm39)		probably null	Het
Or4c10b	A	G	2: 89,711,982 (GRCm39)	M271V	probably benign	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pcsk4	T	C	10: 80,159,713 (GRCm39)	M379V	probably benign	Het
Pdzd2	A	T	15: 12,373,676 (GRCm39)	V2153E	probably benign	Het
Pkd2l1	T	C	19: 44,142,939 (GRCm39)	D427G	possibly damaging	Het
Plcd4	A	G	1: 74,604,311 (GRCm39)	Y763C	probably damaging	Het
Plekhh1	T	C	12: 79,125,774 (GRCm39)	F1270S	probably damaging	Het
Pmfbp1	T	C	8: 110,246,905 (GRCm39)	V259A	probably damaging	Het
Ptprg	T	C	14: 12,179,283 (GRCm38)	S767P	possibly damaging	Het
Rabl3	T	G	16: 37,377,175 (GRCm39)		probably null	Het
Rffl	T	A	11: 82,709,264 (GRCm39)	H53L	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,560,355 (GRCm39)	V495I	possibly damaging	Het
Scaf11	A	T	15: 96,317,196 (GRCm39)	D789E	possibly damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Siglech	T	A	7: 55,421,434 (GRCm39)	F190I	probably benign	Het
Slc22a22	C	A	15: 57,117,636 (GRCm39)	A302S	probably damaging	Het
Slc46a3	T	A	5: 147,815,954 (GRCm39)	T458S	probably benign	Het
Spta1	G	T	1: 174,035,910 (GRCm39)	R1072L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,104,143 (GRCm39)	R528G	probably damaging	Het
Tfip11	T	C	5: 112,483,529 (GRCm39)	V648A	possibly damaging	Het
Thumpd3	T	C	6: 113,043,749 (GRCm39)	V388A	probably benign	Het
Tmem131l	C	T	3: 83,850,058 (GRCm39)		probably null	Het
Ttf2	C	A	3: 100,855,509 (GRCm39)	Q895H	possibly damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vtn	A	G	11: 78,391,049 (GRCm39)	T210A	probably damaging	Het
Zfp1010	C	A	2: 176,957,195 (GRCm39)	C101F	probably damaging	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	probably benign	Het

Other mutations in Ndufaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Ndufaf3	APN	9	108,444,068 (GRCm39)	missense	probably benign	0.27
R0594:Ndufaf3	UTSW	9	108,444,122 (GRCm39)	missense	probably benign	0.01
R1295:Ndufaf3	UTSW	9	108,443,892 (GRCm39)	missense	probably damaging	1.00
R1782:Ndufaf3	UTSW	9	108,443,210 (GRCm39)	missense	probably damaging	1.00
R3803:Ndufaf3	UTSW	9	108,444,092 (GRCm39)	missense	probably benign	0.00
R5470:Ndufaf3	UTSW	9	108,443,643 (GRCm39)	unclassified	probably benign
R6601:Ndufaf3	UTSW	9	108,443,416 (GRCm39)	missense	probably benign	0.01
R7396:Ndufaf3	UTSW	9	108,443,802 (GRCm39)	missense	probably damaging	0.96
R7454:Ndufaf3	UTSW	9	108,444,125 (GRCm39)	start codon destroyed	probably null	0.69
R8298:Ndufaf3	UTSW	9	108,444,120 (GRCm39)	missense	probably benign
R8425:Ndufaf3	UTSW	9	108,444,182 (GRCm39)	unclassified	probably benign
R9348:Ndufaf3	UTSW	9	108,443,357 (GRCm39)	critical splice donor site	probably null
R9731:Ndufaf3	UTSW	9	108,443,158 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAAGGCTCACGTTCCACTG -3'
(R):5'- GCTGTGGCTACTTTGAGACAG -3'

Sequencing Primer
(F):5'- ACTGGACCACCGTCTGTG -3'
(R):5'- GTGGCTACTTTGAGACAGACAACTC -3'

Posted On

2014-09-17